Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645417056

Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 410968

ClinVar RCV Id: RCV000786394 RCV000462970 RCV000617268 RCV003988845

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Pro214dup	CA3563672 NM_004387.3:c.639_641dup